Study results regarding the clinical spectrum and inheritance pattern of GDF2 pathogenic variants suggest incomplete penetrance and/or variability of expressivity with a semi-dominant pattern of ...

Small plastic or metal bits at the end of shoelaces, known as aglets, prevent laces from unraveling and protect them from wear and tear. Similarly, chromosomes are capped by telomeres—specialized ...

The field of genetics has evolved rapidly in recent years, however early understanding of inheritance patterns began much ...

Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

Duchenne muscular dystrophy (DMD) follows an X-linked inheritance pattern. The condition most often affects males, while females may be carriers of the genetic change that causes it. If you have DMD, ...

Jaime Murillo, MD, explores genetic inheritance patterns of Lp(a) from childhood to adulthood, highlighting stability, factors affecting measurement, and awareness challenges among those in the health ...

Researchers have developed the first comprehensive atlas of allele-specific DNA methylation across 39 human cell types, revealing a complex landscape of epigenetic regulation. The study identified ...

Duchenne muscular dystrophy (DMD) is a rare, incurable condition that typically begins in early childhood and is marked by worsening muscle weakness. The disease results from changes in a gene ...